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FLASH GENE
Symbol PDHA1 contributors: mct/npt - updated : 06-07-2022
HGNC name pyruvate dehydrogenase (lipoamide) alpha 1
HGNC id 8806
DNA
TYPE functioning gene
STRUCTURE 17.79 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure tissue-specific transcription factor binding sites
MAPPING cloned Y linked N status confirmed
Map pter - DXS1195 - DXS418 -[DXS999 - DXS443 - DXS3424 - RPS6KA3 - DXS1229 - DXS2504 - DXS1528 - DXS365 ] - DXS7101 - DXS1683 - DXS1052 - DXS274 - DXS92 - DXS1226 - DXS41 - DXS989 - DXS451 - cen
Authors Van de Vosse (94), Trump (95), Börglum (96)
Text [PDHA1 ]
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 3390 - 390 - 2021 34384830
12 - 3504 - 428 - 2021 34384830
12 - 3337 - 397 - 2021 34384830
10 - 3223 - 359 - 2021 34384830
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunelymphocyte
ReproductiveSertoli cell
Reproductivespermatid
Reproductivespermatozoa
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
secondary structure two alpha and two beta subunits
mono polymer heteromer , tetramer
isoforms Precursor the first 29 amino acids correspond to a typical mitochondrial targeting leader sequence; the remaining 361 amino acids represent the mature peptide
HOMOLOGY
interspecies homolog to murine Pdha1
intraspecies homolog to PDHA2
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,matrix
intracellular,nucleus,nucleolus
basic FUNCTION
  • mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA
  • serves as a gate-keeper enzyme link between glycolysis and the mitochondrial citric acid cycle
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • E1 alpha polypeptide of the complex forming an heterotetramer alpha2/beta2 bound to two TPP (thiamine-pyrophosphate) one each bridging E1 alpha and E1 beta to form an active site catalyzing the irreversible decarboxylation of pyruvate to acetyl-CoA
  • INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • thiamine pyrophosphate
  • protein
    cell & other
    REGULATION
    activated by thyroid hormones
    ASSOCIATED DISORDERS
    corresponding disease(s) PDHA1D , LGS
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    promotes cancer progression and acts as a poor prognostic factor for cancer
    tumoral     --low  
    significantly correlated with a poorer overall survival in patients with Gastric cancer
    constitutional     --low  
    significantly decreased in the putamen and substantia nigra of patients with idiopathic Parkinson disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • decreased expression of PDHA1 might be an independent prognostic factor in unfavorable outcomes in ovarian carcinoma
  • PDHA1 is an independent predictor of overall survival in Gastric cancer
  • Therapy target
    ANIMAL & CELL MODELS